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Pkp1 Gene Detail
Summary
  • Symbol
    Pkp1
  • Name
    plakophilin 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1328359
    NCBI Gene: 18772
  • Gene Overview
    MyGene.info: PKP1
Location & Maps
more
  • Sequence Map
    Chr1:135871395-135919207 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      47813 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    PKP1, plakophilin 1
  • Vertebrate Orthologs
    11
  • Human Ortholog
    PKP1, plakophilin 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    B6P
  • Links
    NCBI Gene ID: 5317
    neXtProt AC: NX_Q13835

  • Chr Location
    1q32; chr1:201283452-201332993 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 253
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;2 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: PKP1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human PKP1 associations

Human Disease Mouse Models
       Ectodermal Dysplasia/Skin Fragility Syndrome   OMIM: 604536
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    7 phenotype references
  • All Mutations and Alleles
    7
  • Chemically induced (other)
    2
  • Radiation induced
    1
  • Targeted
    4
  • Genomic Mutations
    3 involving Pkp1
  • Incidental Mutations
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000022498 VEGA Gene Model | MGI Sequence Detail 47813 C57BL/6J ±  kb
transcript OTTMUST00000090231 VEGA | MGI Sequence Detail 3023 Not Applicable  
polypeptide OTTMUSP00000049458 VEGA | MGI Sequence Detail 728 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    480 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 51
    cDNA 51

    Microarray probesets 3
Other
Accession IDs
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MGI:2138285
References
more
  • Summaries
    All 34
    Developmental Gene Expression 5
    Gene Ontology 6
    Phenotypes 7
  • Earliest
    J:113690 Hatzfeld M, et al., Band 6 protein, a major constituent of desmosomes from stratified epithelia, is a novel member of the armadillo multigene family. J Cell Sci. 1994 Aug;107(Pt 8):2259-70
  • Latest
    J:191121 Ferone G, et al., p63 control of desmosome gene expression and adhesion is compromised in AEC syndrome. Hum Mol Genet. 2013 Feb 1;22(3):531-43

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/26/2016
MGI 6.03
The Jackson Laboratory